Description: Homo sapiens menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) (MNAT1), transcript variant 1, mRNA. RefSeq Summary (NM_002431): The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. Transcript (Including UTRs) Position: hg19 chr14:61,201,459-61,435,398 Size: 233,940 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr14:61,201,581-61,435,067 Size: 233,487 Coding Exon Count: 8
ID:MAT1_HUMAN DESCRIPTION: RecName: Full=CDK-activating kinase assembly factor MAT1; AltName: Full=CDK7/cyclin-H assembly factor; AltName: Full=Cyclin-G1-interacting protein; AltName: Full=Menage a trois; AltName: Full=RING finger protein 66; AltName: Full=RING finger protein MAT1; AltName: Full=p35; AltName: Full=p36; FUNCTION: Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminus domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. SUBUNIT: Associates primarily with CDK7 and cyclin H to form the CAK complex. CAK can further associate with the core-TFIIH to form the TFIIH basal transcription factor. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Highest levels in colon and testis. Moderate levels are present thymus, prostate, ovary, and small intestine. The lowest levels are found in spleen and leukocytes. SIMILARITY: Contains 1 RING-type zinc finger. SIMILARITY: Contains 1 UIM (ubiquitin-interacting motif) repeat. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mnat1/";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): MNAT1 CDC HuGE Published Literature: MNAT1 Positive Disease Associations: Body Mass Index
, Cholesterol Related Studies:
Body Mass Index Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Cholesterol Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P51948
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0008270 zinc ion binding GO:0046872 metal ion binding GO:0047485 protein N-terminus binding GO:0061575 cyclin-dependent protein serine/threonine kinase activator activity GO:0008094 DNA-dependent ATPase activity GO:0008353 RNA polymerase II carboxy-terminal domain kinase activity
Biological Process: GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000082 G1/S transition of mitotic cell cycle GO:0006281 DNA repair GO:0006283 transcription-coupled nucleotide-excision repair GO:0006289 nucleotide-excision repair GO:0006294 nucleotide-excision repair, preincision complex assembly GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006361 transcription initiation from RNA polymerase I promoter GO:0006363 termination of RNA polymerase I transcription GO:0006366 transcription from RNA polymerase II promoter GO:0006367 transcription initiation from RNA polymerase II promoter GO:0006368 transcription elongation from RNA polymerase II promoter GO:0006370 7-methylguanosine mRNA capping GO:0006468 protein phosphorylation GO:0007049 cell cycle GO:0007512 adult heart development GO:0008283 cell proliferation GO:0021591 ventricular system development GO:0043066 negative regulation of apoptotic process GO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048661 positive regulation of smooth muscle cell proliferation GO:0051592 response to calcium ion GO:0065003 macromolecular complex assembly
BC000820 - Homo sapiens menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis), mRNA (cDNA clone MGC:5154 IMAGE:3453943), complete cds. AK308701 - Homo sapiens cDNA, FLJ98742. U61835 - Human cyclin G1 interacting protein (1500GX1) mRNA, complete cds. X87843 - H.sapiens mRNA for cyclin H assembly factor. X92669 - H.sapiens mRNA for p35, cyclin-like CAK1-associated protein. AB463879 - Synthetic construct DNA, clone: pF1KB6419, Homo sapiens MNAT1 gene for menage a trois homolog 1, without stop codon, in Flexi system. CU674412 - Synthetic construct Homo sapiens gateway clone IMAGE:100018825 5' read MNAT1 mRNA. HQ447795 - Synthetic construct Homo sapiens clone IMAGE:100071138; CCSB001816_02 menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) (MNAT1) gene, encodes complete protein. KJ891632 - Synthetic construct Homo sapiens clone ccsbBroadEn_01026 MNAT1 gene, encodes complete protein. CR450336 - Homo sapiens full open reading frame cDNA clone RZPDo834B072D for gene MNAT1, menage a trois 1 (CAK assembly factor); complete cds; without stopcodon. KU178191 - Homo sapiens menage a trois-like protein 1 cyclin H assembly factor isoform 1 (MNAT1) mRNA, partial cds. KU178192 - Homo sapiens menage a trois-like protein 1 cyclin H assembly factor isoform 2 (MNAT1) mRNA, complete cds, alternatively spliced. LF209559 - JP 2014500723-A/17062: Polycomb-Associated Non-Coding RNAs. JD337386 - Sequence 318410 from Patent EP1572962. LF329562 - JP 2014500723-A/137065: Polycomb-Associated Non-Coding RNAs. MA565139 - JP 2018138019-A/137065: Polycomb-Associated Non-Coding RNAs. MA445136 - JP 2018138019-A/17062: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03420 - Nucleotide excision repair
BioCarta from NCI Cancer Genome Anatomy Project h_ptc1Pathway - Sonic Hedgehog (SHH) Receptor Ptc1 Regulates cell cycle
Reactome (by CSHL, EBI, and GO)
Protein P51948 (Reactome details) participates in the following event(s):
R-HSA-5689861 Recruitment of XPA and release of CAK R-HSA-73758 Recruitment of Active RNA Polymerase I to SL1:phos.UBF-1:rDNA Promoter R-HSA-109639 Formation of the closed pre-initiation complex R-HSA-112379 Recruitment of elongation factors to form elongation complex R-HSA-112383 Hypophosphorylation of RNA Pol II CTD by FCP1P protein R-HSA-167072 Hypophosphorylation of RNA Pol II CTD by FCP1P protein R-HSA-167077 Recruitment of elongation factors to form HIV-1 elongation complex R-HSA-167196 Recruitment of elongation factors to form HIV-1 elongation complex R-HSA-5691000 TFIIH binds GG-NER site to form a verification complex R-HSA-73946 Abortive initiation R-HSA-75856 Abortive Initiation Before Second Transition R-HSA-75891 Abortive Initiation After Second Transition R-HSA-77090 Methylation of GMP-cap by RNA Methyltransferase R-HSA-112385 Addition of nucleotides leads to transcript elongation R-HSA-167181 Addition of nucleotides leads to HIV-1 transcript elongation R-HSA-167468 Abortive HIV-1 Initiation After Second Transition R-HSA-167474 Abortive HIV-1 Initiation Before Second Transition R-HSA-167477 Abortive HIV-1 initiation after formation of the first phosphodiester bond R-HSA-170076 CAK-mediated phosphorylation of Cyclin B1:Cdc2 complexes R-HSA-170087 CAK-mediated phosphorylation of Cyclin A:Cdc2 complexes R-HSA-187949 CAK-mediated phosphorylation of Cyclin A:Cdk2 R-HSA-188350 CAK-mediated phosphorylation of Cyclin E:Cdk2 R-HSA-8942836 CDK4/6:CCND complexes are activated by T-loop phosphorylation of CDK4/6 R-HSA-73769 Loss of Rrn3 from RNA Polymerase I promoter escape complex R-HSA-74994 Polymerase I Transcription Complex/Nascent Pre rRNA Complex pauses at the TTF-I:Sal Box R-HSA-74992 Dissociation of PTRF:Polymerase I/Nascent Pre rRNA Complex:TTF-I:Sal Box R-HSA-75873 Addition of Nucleotides 5 through 9 on the growing Transcript R-HSA-76576 Addition of nucleotides 10 and 11 on the growing transcript: Third Transition R-HSA-111264 Addition of nucleotides between position +11 and +30 R-HSA-77068 Activation of GT R-HSA-77069 RNA Polymerase II CTD (phosphorylated) binds to CE R-HSA-77073 SPT5 subunit of Pol II binds the RNA triphosphatase (RTP) R-HSA-77077 Capping complex formation R-HSA-75864 Newly Formed Phosphodiester Bond Stabilized and PPi Released R-HSA-75866 Nucleophillic Attack by 3'-hydroxyl Oxygen of nascent transcript on the Alpha Phosphate of NTP R-HSA-75949 RNA Polymerase II Promoter Opening: First Transition R-HSA-75862 Fall Back to Closed Pre-initiation Complex R-HSA-75861 NTP Binds Active Site of RNA Polymerase II R-HSA-113430 Extrusion of 5'-end of 30 nt long transcript through the pore in Pol II complex R-HSA-77071 Phosphorylation (Ser5) of RNA pol II CTD R-HSA-167117 Addition of nucleotides 10 and 11 on the growing HIV-1 transcript: Third Transition R-HSA-167136 Addition of nucleotides 5 through 9 on the growing HIV-1 transcript R-HSA-167134 Newly formed phosphodiester bond stabilized and PPi released R-HSA-167098 Phosphorylation (Ser5) of RNA pol II CTD R-HSA-167111 Extrusion of 5'-end of 30 nt long HIV-1 transcript through the pore in Pol II complex R-HSA-167130 Nucleophillic attack by 3'-hydroxyl oxygen of nascent HIV-1 transcript on the Alpha phosphate of NTP R-HSA-167133 Activation of GT R-HSA-167128 RNA Polymerase II CTD (phosphorylated) binds to CE R-HSA-167115 Addition of nucleotides between position +11 and +30 on HIV-1 transcript R-HSA-167153 SPT5 subunit of Pol II binds the RNA triphosphatase (RTP) R-HSA-167097 HIV Promoter Opening: First Transition R-HSA-167484 Fall Back to Closed Pre-initiation Complex R-HSA-167118 NTP binds active site of RNA Polymerase II in HIV-1 open pre-initiation complex R-HSA-6781840 ERCC6 binds stalled RNA Pol II R-HSA-6782211 DNA polymerases delta, epsilon or kappa bind the TC-NER site R-HSA-6782204 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER R-HSA-6782208 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER R-HSA-6797616 CCNK:CDK12 binds RNA Pol II at DNA repair genes R-HSA-74993 PTRF Binds the Polymerase I Transcription Complex/Nascent Pre rRNA Complex paused at the TTF-I:Sal Box R-HSA-74986 Elongation of pre-rRNA transcript R-HSA-427366 Transcription of intergenic spacer of the rRNA gene R-HSA-77078 Hydrolysis of the 5'-end of the nascent transcript by the capping enzyme R-HSA-77081 Formation of the CE:GMP intermediate complex R-HSA-77085 Dissociation of transcript with 5'-GMP from GT R-HSA-77083 Transfer of GMP from the capping enzyme GT site to 5'-end of mRNA R-HSA-6781833 ERCC8 (CSA) binds stalled RNA Pol II R-HSA-6797606 CDK12 phosphorylates RNA Pol II CTD at DNA repair genes R-HSA-6781867 ERCC8:DDB1:CUL4:RBX1 ubiquitinates ERCC6 and RNA Pol II R-HSA-6782004 Assembly of the pre-incision complex in TC-NER R-HSA-6782069 UVSSA:USP7 deubiquitinates ERCC6 R-HSA-6782131 RNA Pol II backtracking in TC-NER R-HSA-6782138 ERCC5 and RPA bind TC-NER site R-HSA-6782141 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER R-HSA-5696395 Formation of Incision Complex in GG-NER R-HSA-73762 RNA Polymerase I Transcription Initiation R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening R-HSA-112382 Formation of RNA Pol II elongation complex R-HSA-113418 Formation of the Early Elongation Complex R-HSA-167158 Formation of the HIV-1 Early Elongation Complex R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat R-HSA-6781823 Formation of TC-NER Pre-Incision Complex R-HSA-674695 RNA Polymerase II Pre-transcription Events R-HSA-72086 mRNA Capping R-HSA-75955 RNA Polymerase II Transcription Elongation R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript R-HSA-167162 RNA Polymerase II HIV Promoter Escape R-HSA-167161 HIV Transcription Initiation R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) R-HSA-69273 Cyclin A/B1/B2 associated events during G2/M transition R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entry R-HSA-69202 Cyclin E associated events during G1/S transition R-HSA-69231 Cyclin D associated events in G1 R-HSA-73772 RNA Polymerase I Promoter Escape R-HSA-73863 RNA Polymerase I Transcription Termination R-HSA-73776 RNA Polymerase II Promoter Escape R-HSA-77075 RNA Pol II CTD phosphorylation and interaction with CE R-HSA-75953 RNA Polymerase II Transcription Initiation R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance R-HSA-167160 RNA Pol II CTD phosphorylation and interaction with CE during HIV infection R-HSA-167172 Transcription of the HIV genome R-HSA-6782135 Dual incision in TC-NER R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes R-HSA-73854 RNA Polymerase I Promoter Clearance R-HSA-73857 RNA Polymerase II Transcription R-HSA-167169 HIV Transcription Elongation R-HSA-8953854 Metabolism of RNA R-HSA-5696398 Nucleotide Excision Repair R-HSA-69275 G2/M Transition R-HSA-69242 S Phase R-HSA-69206 G1/S Transition R-HSA-69236 G1 Phase R-HSA-73864 RNA Polymerase I Transcription R-HSA-73777 RNA Polymerase I Chain Elongation R-HSA-427413 NoRC negatively regulates rRNA expression R-HSA-162599 Late Phase of HIV Life Cycle R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-74160 Gene expression (Transcription) R-HSA-73894 DNA Repair R-HSA-453274 Mitotic G2-G2/M phases R-HSA-69278 Cell Cycle (Mitotic) R-HSA-453279 Mitotic G1-G1/S phases R-HSA-5250941 Negative epigenetic regulation of rRNA expression R-HSA-162587 HIV Life Cycle R-HSA-212436 Generic Transcription Pathway R-HSA-1640170 Cell Cycle R-HSA-212165 Epigenetic regulation of gene expression R-HSA-162906 HIV Infection R-HSA-5663205 Infectious disease R-HSA-1643685 Disease
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
